Implementations by Phenotype

Title Phenotype Institution Algorithm Type Total Cases Total Controlssort descending PPV Sensitivity
HDL Marshfield Implementation High-Density Lipoproteins (HDL) Marshfield Clinic Research Foundation Case Only 82% 92%
Mount Sinai Type 1 Diabetes Mount Sinai Case, Control
Severe Early Childhood Obesity - CCHMC Severe Early Childhood Obesity Cincinnati Children's Hospital Medical Center Case Only 428 90% 72%
RBC Marshfield Implementation Red Blood Cell Indices Marshfield Clinic Research Foundation Case Only 96% 87%
KPWA Pneumonia- VUMC eMERGE v5.1 KPWA Case, Control
CHOP implementation ADHD phenotype algorithm CHOP Case, Control 96%, 96%
Harvard_SLE_Implementation SLE (Systemic Lupus Erythematosus) using SLICC (Systemic Lupus Internation Collaborating Clinics) Criteria Case, Control
Vanderbilt University Medical Center eMERGE Depression Depression Vanderbilt University Medical Center Case, Control
Columbia_T2DM_Implementation Type 2 Diabetes - PRS Evaluation Columbia University Medical Center Case Only
Columbia - AID Phenotype Autoimmune Disease Phenotype Columbia University Medical Center Case, Control
Mount Sinai Biobank DILI algorithm Implementation Drug Induced Liver Injury Mount Sinai School of Medicine Case, Control 29%, 100%
Height Marshfield Implementation Height Marshfield Clinic Research Foundation Case Only 87% 84%
CCHMC T1D Implementation Type 1 Diabetes Case Only
Ovarian_Uterine Cancer_Mayo clinic Implementation Ovarian/Uterine Cancer (OvUtCa) Mayo Clinic Case, Control
Severe Early Childhood Obesity- CHOP Severe Early Childhood Obesity The Children's Hospital of Philadelphia Case, Control 96%, 96%
RBC Mayo Implementation Red Blood Cell Indices Mayo Clinic Case Only 98% 94%
Columbia implementation version 5 Pneumonia- VUMC eMERGE v5.1 Columbia University Case, Control
Geisinger CKD Implementation Chronic Kidney Disease Geisinger Case, Control
Geisinger Implementation SLE (Systemic Lupus Erythematosus) using SLICC (Systemic Lupus Internation Collaborating Clinics) Criteria Geisinger Case Only
Updated Geisinger Impl CAAD (Carotid Artery Atherosclerosis Disease) Geisinger Case, Control
Network Combined Dataset - ACE-I induced Cough ACE Inhibitor (ACE-I) induced cough Case, Control
NU FH implementation Electronic Health Record-based Phenotyping Algorithm for Familial Hypercholesterolemia Northwestern University Case, Control
Vanderbilt March 2016 Appendicitis Vanderbilt University Medical Center Case, Control
Cardiac Conduction Marshfield Implementation Cardiac Conduction (QRS) Marshfield Clinic Research Foundation Case Only 100%
Mount Sinai -- T2DM Type 2 Diabetes - PRS Evaluation Mount Sinai Case Only

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